{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826323417",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 27,
          "referenceAllele": "E",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NP_001230175.1:p.Glu27Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA802238",
          "hgvs": "NM_001243246.2:c.81G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA339964167",
          "hgvs": "NM_001243246.2:c.81G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158927"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=515997[alleleid]",
        "alleleId": 515997,
        "preferredName": "NM_022356.4(P3H1):c.81G>C (p.Glu27Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/536820",
        "RCV": [
          "RCV000645496",
          "RCV001097864",
          "RCV001731837",
          "RCV002279466"
        ],
        "variationId": 536820
      }
    ]
  },
  "type": "amino-acid"
}